المؤلفون: Hughes, Joel, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise, Grange, Dorothy, Berger, Seth, Payne, Katelyn, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle, Clegg, Nancy, Everson, Joshua, Martinez, Ariel, Walsh, Laurence, Bedoukian, Emma, Jones, Marilyn, Harris, Catharine, Riedhammer, Korbinian, Choukair, Daniela, Fechner, Patricia, Rutter, Meilan, Hufnagel, Sophia, Roifman, Maian, Kletter, Gad, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert, Vezina, Chad, Muenke, Maximilian, Chitayat, David

المصدر: American Journal of Human Genetics. 106(1)

مصطلحات موضوعية: MYPT1, PPP1R12A, disorders of sex development, embryogenesis, encephalocele, facial dysmorphism, forebrain, holoprosencephaly, hypospadias, omphalocele, Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Disorders of Sex Development, Female, Gestational Age, Holoprosencephaly, Humans, Male, Mutation, Myosin-Light-Chain Phosphatase, Phenotype, Pregnancy, Urogenital Abnormalities

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0vd729srTest

المؤلفون: Kalia, Sarah S., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Eng, Christine, Evans, James P., Herman, Gail E., Hufnagel, Sophia B., Klein, Teri E., Korf, Bruce R., McKelvey, Kent D., Ormond, Kelly E., Richards, C. Sue, Vlangos, Christopher N., Watson, Michael, Martin, Christa L., Miller, David T.

المصدر: Genetics in Medicine ; volume 19, issue 2, page 249-255 ; ISSN 1098-3600

الإتاحة: https://doi.org/10.1038/gim.2016.190Test
http://www.nature.com/articles/gim2016190.pdfTest
http://www.nature.com/articles/gim2016190Test
https://api.elsevier.com/content/article/PII:S1098360021015008?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021015008?httpAccept=text/plainTest

المؤلفون: Hong, Sungkook, Hu, Ping, Marino, Juliana, Hufnagel, Sophia B., Hopkin, Robert J., Toromanovic, Alma, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A., Kruszka, Paul, Roessler, Erich, Muenke, Maximilian

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/25/10/1912Test; http://dx.doi.org/10.1093/hmg/ddw064Test

الإتاحة: https://doi.org/10.1093/hmg/ddw064Test
http://hmg.oxfordjournals.org/cgi/content/short/25/10/1912Test

المؤلفون: Hughes, Joel J, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C, Grange, Dorothy K, Berger, Seth I, Payne, Katelyn K, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R, Clegg, Nancy J, Everson, Joshua L, Martinez, Ariel F, Walsh, Laurence E, Bedoukian, Emma, Jones, Marilyn C, Harris, Catharine Jean, Riedhammer, Korbinian M, Choukair, Daniela, Fechner, Patricia Y, Rutter, Meilan M, Hufnagel, Sophia B, Roifman, Maian, Kletter, Gad B, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J, Vezina, Chad M, Muenke, Maximilian, Chitayat, David

المساهمون: Fachgebiet Nephrologie (Prof. Heemann), Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1612889Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.004Test
https://mediatum.ub.tum.de/1612889Test

المؤلفون: Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: PPP1R12A, MYPT1, holoprosencephaly, embryogenesis, disorders of sex development, forebrain, hypospadias, facial dysmorphism, encephalocele, omphalocele

وصف الملف: application/pdf

العلاقة: The American Journal of Human Genetics; Hughes, J. J., Alkhunaizi, E., Kruszka, P., Pyle, L. C., Grange, D. K., Berger, S. I., Payne, K. K., Masser-Frye, D., Hu, T., Christie, M. R., Clegg, N. J., Everson, J. L., Martinez, A. F., Walsh, L. E., Bedoukian, E., Jones, M. C., Harris, C. J., Riedhammer, K. M., Choukair, D., … Chitayat, D. (2020). Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. The American Journal of Human Genetics, 106(1), 121–128. https://doi.org/10.1016/j.ajhg.2019.12.004Test; https://hdl.handle.net/1805/24376Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.12.004Test
https://hdl.handle.net/1805/24376Test

المؤلفون: Menke, Leonie A, Gardeitchik, Thatjana, Hammond, Peter, Heimdal, Ketil R, Houge, Gunnar, Hufnagel, Sophia B, Ji, Jianling, Johansson, Stefan, Kant, Sarina G, Kinning, Esther, Leon, Eyby L, Newbury-Ecob, Ruth, Paolacci, Stefano, Pfundt, Rolph, Ragge, Nicola K, Rinne, Tuula, Ruivenkamp, Claudia, Saitta, Sulagna C, Sun, Yu, Tartaglia, Marco, Terhal, Paulien A, van Essen, Anthony J, Vigeland, Magnus D, Xiao, Bing, Hennekam, Raoul C, DDD Study

المساهمون: Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: CBP, CREBBP, EP300, Intellectual disability, exome sequencing, genotype-phenotype correlation

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/364695Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/364695Test

المؤلفون: Menke, Leonie A., Gardeitchik, Thatjana, Hammond, Peter, Heimdal, Ketil R., Houge, Gunnar, Hufnagel, Sophia B., Ji, Jianling, Johansson, Stefan, Kant, Sarina G., Kinning, Esther, Leon, Eyby L., Newbury-Ecob, Ruth, Paolacci, Stefano, Pfundt, Rolph, Ragge, Nicola K., Rinne, Tuula, Ruivenkamp, Claudia, Saitta, Sulagna C., Sun, Yu, Tartaglia, Marco, Terhal, Paulien A., van Essen, Anthony J., Vigeland, Magnus D., Xiao, Bing, Hennekam, Raoul C.

المصدر: Menke , L A , Gardeitchik , T , Hammond , P , Heimdal , K R , Houge , G , Hufnagel , S B , Ji , J , Johansson , S , Kant , S G , Kinning , E , Leon , E L , Newbury-Ecob , R , Paolacci , S , Pfundt , R , Ragge , N K , Rinne , T , Ruivenkamp , C , Saitta , S C , Sun , Y , Tartaglia , M , Terhal , P A , van Essen , A J , Vigeland ....

مصطلحات موضوعية: CBP, CREBBP, EP300, exome sequencing, genotype–phenotype correlation, intellectual disability

العلاقة: https://research-information.bris.ac.uk/en/publications/e7c6d044-dffb-497e-8c6e-039944a7cd09Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38626Test
https://hdl.handle.net/1983/e7c6d044-dffb-497e-8c6e-039944a7cd09Test
https://research-information.bris.ac.uk/en/publications/e7c6d044-dffb-497e-8c6e-039944a7cd09Test
http://www.scopus.com/inward/record.url?scp=85042071726&partnerID=8YFLogxKTest

المؤلفون: Hufnagel, Sophia B., Martin, Lisa, Cassedy, Amy, Hopkin, Robert, Antommaria, Armand H. Matheny

المصدر: Pediatrics Faculty Publications

مصطلحات موضوعية: Pediatrics

العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/1520Test; https://dx.doi.org/10.1002/ajmg.a.37730Test

الإتاحة: https://doi.org/10.1002/ajmg.a.37730Test
https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/1520Test

المؤلفون: Villamizar-Schiller, Ives T., Pabón, Laudy A., Hufnagel, Sophia B., Serrano, Norma C., Karl, Gabriela, Jefferies, John L., Hopkin, Robert J., Prada, Carlos E.

المصدر: European Journal of Medical Genetics ; volume 58, issue 3, page 180-183 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2014.12.009Test
https://api.elsevier.com/content/article/PII:S1769721214002213?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721214002213?httpAccept=text/plainTest

المؤلفون: Hufnagel, Sophia B., Antommaria, Armand H.

المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 5, page 1328-1331 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36398Test